diaendoСахарный диабетDiabetes mellitus2072-03512072-0378Endocrinology research centre10.14341/DM9876diaendo-9876Research ArticleКлинический случайCase reportКлинический случай неонатального сахарного диабета, обусловленного мутацией гена INSA clinical case of neonatal diabetes caused by INS gene mutationhttps://orcid.org/0000-0001-5811-0024АтанесянРоза АртуровнаAtanesyanRosa A.

к.м.н., ассистент

MD, PhD, assistant

roza.atanesyan@yandex.ruhttps://orcid.org/0000-0003-4934-929XУгловаТатьяна АлексеевнаUglovaTatyana A.

детский эндокринолог

MD

uglova@mail.ruhttps://orcid.org/0000-0002-0355-3116ВдовинаТатьяна МихайловнаVdovinaTatyana M.

к.м.н.

MD, PhD

vdovina.71.71@mail.ruhttps://orcid.org/0000-0001-7248-1614КлимовЛеонид ЯковлевичKlimovLeonid Ya.

к.м.н., доцент

MD, PhD, associate professor

klimov_leo@mail.ruhttps://orcid.org/0000-0003-4402-8331КостановаМарина ЮрьевнаKostanovaMarina U.

детский эндокринолог

MD

marka3010@yandex.ruhttps://orcid.org/0000-0002-0731-7153КурьяниноваВиктория АлександровнаKuryaninovaVictoriya A.

к.м.н., ассистент

MD, PhD, assistant

vichkak@mail.ruhttps://orcid.org/0000-0002-7390-6204СтоянМарина ВалерьевнаStoyanMarina V.

к.м.н., ассистент

MD, PhD, assistant

marina-stoyan@mail.ruhttps://orcid.org/0000-0001-7641-4267АлавердянЛилит СамвеловнаAlaverdyanLilit S.

ассистент

MD, assistant

samvelovnaa@mail.ruhttps://orcid.org/0000-0002-2056-153XДолбняСветлана ВикторовнаDolbnyaSvetlana V.

к.м.н., доцент

MD, PhD

svet-lana.dolbnya@yandex.ru<p>Ставропольский государственный медицинский университет; Краевой эндокринологический диспансер</p>Россия<p>Stavropol state medical University; Regional endocrinological dispensary</p>Russian Federation<p>Городская детская клиническая больница имени Г.К. Филиппского</p>Россия<p>Municipal child's clinical hospital of a name of G. K. Filippsky</p>Russian Federation<p>Ставропольский государственный медицинский университет</p>Россия<p>Stavropol state medical University</p>Russian Federation<p>Ставропольский государственный медицинский университет; Городская детская клиническая больница имени Г.К. Филиппского</p>Россия<p>Stavropol state medical University; Municipal child's clinical hospital of a name of G. K. Filippsky</p>Russian Federation201923062019222170176Copyright &#x00A9; Атанесян Р.А., Углова Т.А., Вдовина Т.М., Климов Л.Я., Костанова М.Ю., Курьянинова В.А., Стоян М.В., Алавердян Л.С., Долбня С.В., 20192019Атанесян Р.А., Углова Т.А., Вдовина Т.М., Климов Л.Я., Костанова М.Ю., Курьянинова В.А., Стоян М.В., Алавердян Л.С., Долбня С.В.Atanesyan R.A., Uglova T.A., Vdovina T.M., Klimov L.Y., Kostanova M.U., Kuryaninova V.A., Stoyan M.V., Alaverdyan L.S., Dolbnya S.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.dia-endojournals.ru/jour/article/view/9876

Неонатальный сахарный диабет (НСД) – тяжелая патология эндокринной системы, диагностируемая у детей первых месяцев жизни. НСД относится к редким (1 : 300 000–1 : 400 000 новорожденных) заболеваниям, вызванным нарушениями обмена веществ с постнатальной панкреатической β-клеточной дисфункцией, проявляющейся гипергликемией и гипоинсулинемией. В настоящее время установлено, что молекулярно-генетическая диагностика форм неонатального диабета может влиять на лечение заболевания и определять прогноз. Интересно, что большинство выявленных мутаций в гене инсулина не наследуются, а являются спорадическими. Кроме гетерозиготных мутаций INS, есть данные и о гомозиготных или компаунд-гетерозиготных мутациях, вызывающих НСД.

В статье представлен клинический случай девочки с НСД, связанным с мутацией гена инсулина. Мутации гена INS вызывают перманентный диабет, поэтому детям показано генетическое обследование, особенно пациентам с СД 1 типа при отсутствии антител.

В настоящее время нет общепризнанных данных, которые позволили бы составить фенотипический и генотипический «портрет» форм НСД, а также уточнить факторы, определяющие их возникновение. Требуется дальнейшее изучение случаев НСД у детей с целью определения детальной клинической и генетической характеристики подтипов НСД с последующим катамнестическим наблюдением для прогнозирования течения заболевания.

Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 000–1:400 000 newborns) metabolic disorders with postnatal pancreatic β-cell dysfunction, manifested by hyperglycaemia and hypoinsulinaemia. It is currently established that molecular genetic diagnosis of neonatal diabetes forms can influence treatment and prognosis. Interestingly, most identified mutations in the insulin gene are not inherited, but are sporadic. There is evidence that, in addition to heterozygous INS mutations, NDM can be caused by homozygous or compound-heterozygous mutations.

The present article presents the clinical case of a girl with NDM associated with an INS gene mutation. INS gene mutations cause permanent diabetes and require children to undergo genetic examination, especially patients with type 1 diabetes in the absence of antibodies.

Currently, there are no data that allow to determine a phenotypic and genotypic ‘portrait’ of NDM forms or to explain the factors determining their occurrence. Further studies of clinical cases of neonatal diabetes are therefore required to determine the characteristics of NDM subtypes with subsequent disease prognosis.

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The authors declare that there are no conflicts of interest present.